Variant report

Variant	rs56084994
Chromosome Location	chr1:197084463-197084464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197082888..197084637-chr1:197110135..197112878,2	K562	blood:
2	chr1:197083131..197085209-chr1:197097769..197099515,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10754216	0.89[ASN][1000 genomes]
rs10801589	0.91[ASN][1000 genomes]
rs10922163	0.91[ASN][1000 genomes]
rs1127661	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17514309	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17514324	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17549312	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17549360	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17549430	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17550014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17662710	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1794011	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2225565	0.86[EUR][1000 genomes]
rs2878749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737110	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3737111	0.89[ASN][1000 genomes]
rs3762271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304071	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41308365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41310911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41310925	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41310927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4581302	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4628533	1.00[AFR][1000 genomes]
rs55857606	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56111948	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56387334	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5996	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61819074	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819088	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819095	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61819096	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61819116	1.00[AFR][1000 genomes]
rs61819117	1.00[AFR][1000 genomes]
rs61819118	1.00[AFR][1000 genomes]
rs61819119	0.91[AFR][1000 genomes]
rs61819124	1.00[AFR][1000 genomes]
rs61820789	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820800	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6690730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700180	0.91[ASN][1000 genomes]
rs698859	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72736469	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72736474	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72738635	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72738637	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72738645	1.00[AFR][1000 genomes]
rs72738652	1.00[AFR][1000 genomes]
rs7514071	0.81[ASN][1000 genomes]
rs7517428	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs857024	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs857025	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs955927	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
4	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
6	chr1:197070600-197100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:197070800-197085400	Weak transcription	Osteobl	bone
8	chr1:197071000-197105400	Strong transcription	Dnd41	blood
9	chr1:197071400-197095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:197071800-197104600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:197072600-197087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:197072600-197104600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:197072600-197107400	Weak transcription	Fetal Intestine Small	intestine
14	chr1:197073000-197104000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:197073000-197115000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:197073600-197098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:197073800-197085200	Weak transcription	GM12878-XiMat	blood
18	chr1:197073800-197091400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:197074000-197085400	Weak transcription	HepG2	liver
20	chr1:197074000-197115000	Weak transcription	Fetal Brain Male	brain
21	chr1:197074200-197085000	Weak transcription	NHDF-Ad	bronchial
22	chr1:197074200-197091400	Weak transcription	NHEK	skin
23	chr1:197074200-197102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:197076200-197094000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:197076400-197085200	Weak transcription	NH-A	brain
26	chr1:197076400-197096400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:197076600-197085200	Weak transcription	HMEC	breast
28	chr1:197077000-197085400	Weak transcription	K562	blood
29	chr1:197077000-197114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:197077200-197090800	Weak transcription	NHLF	lung
31	chr1:197077800-197084800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:197078200-197100400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:197078600-197084600	Weak transcription	Hela-S3	cervix
34	chr1:197079800-197088200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:197080000-197084800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:197080400-197088000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:197080400-197088400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:197080400-197092600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:197080600-197105400	Strong transcription	Fetal Thymus	thymus
40	chr1:197081200-197103000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:197081600-197086800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:197081800-197090200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:197082000-197094600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:197082200-197088400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:197083000-197085400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:197083000-197087600	Strong transcription	Fetal Lung	lung
47	chr1:197083000-197089200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:197083200-197085000	Weak transcription	A549	lung
49	chr1:197083400-197085000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:197083400-197085800	Strong transcription	Fetal Muscle Leg	muscle

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